A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3794n106



Internal ID19021903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23549706..23550350hg38UCSC Ensembl
chr8:23407219..23407863hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130149, nsv1130577
SamplesKWS2
Known GenesSLC25A37
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3794n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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